A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130617



Internal ID19259619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:40645922..40646246hg38UCSC Ensembl
OuterchrX:40505174..40505498hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4229n106
Supporting Variantsnssv3966931, nssv3986992
SamplesKWS2, KWS1
Known GenesCXorf38
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130617
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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